Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.K48E

TNFRSF1A

1,150 papers

RefSeq Summary

This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectiv...

Pfam Domains

TNFR_c6aa 44–81UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 44–81UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 84–125UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 84–125UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 127–166UCSCTNFR/NGFR cysteine-rich region
TNFR_c6aa 127–166UCSCTNFR/NGFR cysteine-rich region

Gene Aliases

HGNC Name

TNF receptor superfamily member 1A

HGNC Previous Symbol

TNFR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001065.4
p.K48E
c.142A>G
Surrounding Variants
1 paper
NM_001065.4
p.K48I
c.143A>T
1 paper
NM_001065.4
p.K48R
c.143A>G
1 paper
NM_001065.4
p.G47A
c.140G>C
4 papers
NM_001065.4
p.Y49D
c.145T>G
4 papers
NM_001065.4
p.Y49H
c.145T>C
3 papers
NM_001065.4
p.G47R
c.139G>C
4 papers
NM_001065.4
p.G47R
c.139G>A
1 paper
NM_001065.4
p.V43_Q46delFs
c.128_138del11
3 papers
NM_001065.4
p.Y49C
c.146A>G
8 papers
NM_001065.4
p.I50F
c.148A>T
2 papers
NM_001065.4
p.I50V
c.148A>G
2 papers
NM_001065.4
p.I50L
c.148A>C
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